JENNIE: Georgia couple shares personal journey through their baby’s Hurler Syndrome diagnosis

Jennie

AUGUSTA, Ga. (WJBF)– Today, we’re talking about a rare birth defect that’s had one young Georgia family living in a Ronald McDonald House far from home, for months, as their baby girls did something amazing.

Anastasia Cardwell and Michael Black are sharing their family’s recent Hurler Syndrome diagnosis with us today and the life saving, at least life changing, bone marrow donation between baby sisters Emorie and Ellie Mae.

Hurler Syndrome is a genetic disorder that occurs in approximately 1 in 100,000 newborns. Children with Mucopolysaccharidosis Type 1, or MPS1, can’t make a specific protein needed to break down sugars. It can affect their physical and cognitive development.

Children who have the severe form usually start to have symptoms while they’re still infants. They’re often big when they’re born and grow quickly for a year, but may never grow taller than 4 feet. They tend to be short with a stocky build, large head, tough skin, short hands with curving fingers, and a curved spine.

If you are pregnant and you know you carry the gene, you can find out whether the baby you’re carrying is affected. talk to your doctor about testing early in your pregnancy.

Although there is no cure for MPS1, early treatment can improve the quality of life. Most children with less severe forms can go to school, they’ll go through puberty and can have kids of their own. In severe cases, though, the children might not live to be teenagers.

For support and to learn more …. visit the National MPS Society website.

If you want to help Ellie Mae’s family, just go to gofundme.com and look for Medical Bills for Ellie Mae. This is what the page looks like:

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